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2. Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

Author

Aurélien Trimouille, Jean-Madeleine de Sainte Agathe, Eulalie Lasseaux, Didier Lacombe, Benoit Arveiler, Virginie Raclet, Jerome Aupy, Laetitia Gaston, Claudio Plaisant, Julien Van-Gils, and Clémence Pfirrmann

Subjects
Genetics, Epilepsy, business.industry, Intellectual disability, medicine, Missense mutation, General Medicine, medicine.disease, business, Phenotype, Genetics (clinical)
Abstract

Dyment et al. (2019) recently reported eight novel patients with intellectual disability and epilepsy associated with heterozygous de novo missense variants in TRPM3. We report a novel patient with the same recurrent de novo missense of TRPM3 found in seven of these eight cases, p.(Val837Met), providing an emphasis towards ocular and joints defects along with a non-mandatory epilepsy.

Published
2020

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